Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2

American Journal of Human Genetics
Y LiangThomas B Friedman

Abstract

The nonsyndromic congenital recessive deafness gene, DFNB3, first identified in Bengkala, Bali, was mapped to a approximately 12-cM interval on chromosome 17. New short tandem repeats (STRs) and additional DNA samples were used to identify recombinants that constrain the DFNB3 interval to less, similar6 cM on 17p11.2. Affected individuals from Bengkala and affected members of a family with hereditary deafness who were from Bila, a village neighboring Bengkala, were homozygous for the same alleles for six adjacent STRs in the DFNB3 region and were heterozygous for other distal markers, thus limiting DFNB3 to an approximately 3-cM interval. Nonsyndromic deafness segregating in two unrelated consanguineous Indian families, M21 and I-1924, were also linked to the DFNB3 region. Haplotype analysis indicates that the DFNB3 mutations in the three pedigrees most likely arose independently and suggests that DFNB3 makes a significant contribution to hereditary deafness worldwide. On the basis of conserved synteny, mouse deafness mutations shaker-2 (sh2) and sh2J are proposed as models of DFNB3. Genetic mapping has refined sh2 to a 0.6-cM interval of chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting t...Continue Reading

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Citations

Oct 7, 2003·Annual Review of Genomics and Human Genetics·Thomas B Friedman, Andrew J Griffith
Apr 3, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Ruben Stepanyan, Gregory I Frolenkov
Jun 2, 2012·Frontiers in Bioscience (Landmark Edition)·Duygu Duman, Mustafa Tekin
May 16, 2002·Experimental Animals·Jeong Woong LeeJun Gyo Suh
Mar 4, 2006·Brain Research·Mark A Crumling, Yehoash Raphael
Nov 9, 2001·Annual Review of Genetics·C PetitJ P Hardelin
Mar 7, 2000·American Journal of Medical Genetics·R A SundstromR J Smith
Mar 7, 2000·American Journal of Medical Genetics·T B FriedmanK B Avraham
May 3, 2006·Clinical Genetics·M B Petersen, P J Willems
Jul 25, 2006·Journal of Neuroscience Research·Anand N MhatreAnil K Lalwani
Sep 16, 2006·The Journal of Physiology·Ruben StepanyanGregory I Frolenkov
Dec 10, 1999·American Journal of Medical Genetics·S H ElseaJ E Metherall

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